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Galactosemia Screening Test

Referred out for testing

Source Blood
Mnemonic

MISCREFBL

Misc Ref Test Name field: Galactosemia Sc

Specimen Requirements

Newborn blood spot screening card

Fill 4 circles on card, one after the other, with whole blood (blood MUST soak through to back of card). Capillary blood is preferred, but venous blood is acceptable. Use direct application to inoculate card.

If both Galactosemia Screening Test and Newborn Metabolic Screen are requested, only one card is required.

Specimen Handling

Place the blood spot card on a clean flat non-absorbent surface, away from sunlight and heat, and allow to dry for three hours before packaging for transport. 

Send specimen in a separate bag with a photocopy of the requisition.

ACH Accession: For Galactosemia Screening Test cards received from ACH Biochemical Genetics Lab (BGL), data enter using mnemonic indicated above and send to DSC following same process as NMS. There will be no requisitions for cards received from BGL.

Additional Information

Complete the following required information on newborn blood spot screening card, and write "Galactosemia screen" on blood spot card in the "NMS Lab Use Only" box:
- infant's ULI/PHN number
- province of PHN number (e.g. Alberta)
- gender
- infant's last name
- infant's hospital number
- date and time of birth
- gestational age, if premature
- collection date and time
- birth weight
- TPN
- multiple birth set information
- mother's last name, first name and postal code
- ordering physician with first name and/or initials and physician code
- family physician with first name and/or initials (if different from ordering physician) and physician code
- birth location
- zone of collection
- collection location code
- collector code or initials

Please note: This is a separate test from the Newborn Metabolic Screen. If the NMS screen is requested in addition to the galactosemia screen test, also write 'NMS Screen' in the "NMS Lab Use Only " box.

This test is for the initial investigation of galactosemia in a patient.
For confirmation of galactosemia in a patient, please order
Galactose-1-Phosphate Uridyl Transferase (G1PUT). For monitoring of known galactosemic patients on dietary therapy, please order Galactose-1-Phosphate, Quantitative (G1P Quant). For information on these tests, call ACH Biochemical Genetics at 403-955-7379 from 08:00 - 16:15.

Galactosemia screen add-on requests for a previous newborn screen collected within a month must be communicated to Edmonton Client Response at 780-407-7484.

Results are returned directly to physician. Inquiries to Hereditary Disease Program (780-407-8820).

Testing Location University of Alberta
Testing Frequency Tuesdays and Fridays
Alternate Name(s)

Reference Interval Provided on test report. Prior blood transfusion may give a falsely normal result.